Sunday, November 4, 2007

Attention French-Canadian Descendants: Did You Inherit Oculopharyngeal Muscular Dystrophy?

The following article is from Eastman's Online Genealogy Newsletter (25 Oct 2007) and is copyright 2007 by Richard W. Eastman. It is re-published here with the permission of the author. Information about the newsletter is available at http://www.eogn.com.

Not only do genealogists have the opportunity to learn about their ancestors, but they can also learn about various inherited diseases. Some of these medical conditions could be life-threatening while others are merely an inconvenience. By studying inherited diseases floating around in your family, you may save or prolong your own life or the lives of your loved ones. By identifying the risks early in a person's life, medical treatment often can be much more effective than the limited choices available after the medical condition becomes obvious.

I find it interesting that one French-Canadian couple in the 1600s who are the ancestors of millions of living people have tentatively been identified as carriers of a common form of muscular dystrophy. It became more than "interesting," however, when I recognized the names of this couple as my ninth great-grandparents. Suddenly it wasn't just "interesting;" it was personal!

If you have French-Canadian ancestry, now is the time to check your pedigree charts.

Zacharie Cloutier and Saincte Dupont, who emigrated to Canada from France in 1634, may have harbored the genetic defect responsible for the majority of today's French-Canadian cases of Oculopharyngeal Muscular Dystrophy (OPMD).

NOTE: Saincte Dupont's first name has been spelled in many different ways. I have seen it listed as Saincte or Sainte or Xainte or Zainte Dupont. Zacharie's name also is sometimes listed as Zacarie Cloustier. Succeeding generations have spelled the surname in many different ways and have sometimes Anglicized it as well. Zacharie Cloutier's male descendants have spelled their last names as Cary, Cluchier, Clukey, Clurkey, Cluquet, Clouter, Lapensee, Nailer, and probably other ways as well.

Zacharie Cloutier and Saincte Dupont were married in St-Jean de Mortagne, ev. Sees, Perche, France, on 18 July 1616. They set sail from the port of Dieppe in mid-April 1634, accompanied by his family. The fleet consisted of four ships under the command of Duplessis-Bochard, arriving in Québec on June 4, 1634. Zacharie Cloutier was a master carpenter and is known to have helped build the manor house of Robert Giffard at Beauport, Québec. He also worked on the parish church and on Fort Saint-Louis in Québec. We can guess that he also helped build many of the houses of that settlement.

Oculopharyngeal Muscular Dystrophy is best known for a weakness of the muscles that control the eyelids, causing droopy eyelids, a condition also known as ptosis. However, that is not the only symptom. The disease often causes a weakness of the facial muscles and pharyngeal muscles (those in the throat used for swallowing), a condition known as dysphagia. Weakness of facial and limb muscles often occurs later. Symptoms of the disease usually don't begin until the mid 40s or 50s, but can occur earlier.

A person with OPMD might have some of the symptoms, but not all. While the disease is best known for the droopy eyelids that severely narrow the field of vision, another person with the same disease might not display that symptom at all. However, a difficulty in swallowing is also quite common, even if it is not visible to others.

When muscle tissue from a person with OPMD is examined under a high-powered microscope, clumps of proteins called inclusions are seen in the muscle cell nuclei (the cellular compartments that contain the chromosomes), and bubble-like structures (vacuoles) appear in the muscle cells.

Oculopharyngeal Muscular Dystrophy is most common in French-Canadian families or families of French-Canadian descent. When the French-Canadian victims' family trees are traced, Zacharie Cloutier and Saincte Dupont always appear someplace in the pedigree charts, often in more than one place. They appear to be the only couple that is always found amongst the ancestors of every French-Canadian sufferer of OPMD. However, there's also a high incidence of OPMD among Hispanic residents of northern New Mexico. OPMD can also affect people who aren't of French-Canadian or Hispanic background although that is far less common.

If you have difficulty swallowing or if you have droopy eyelids, check your pedigree chart. If you find Zacharie Cloutier and Saincte Dupont in the family tree, you might want to mention that fact to your doctor.

For more information about OPMD, look at http://www.mdausa.org/publications/fa-rareMD.html#opmd, http://www.mda.org/disease/opmd.html, http://www.webmd.com/brain/muscular-dystrophy-oculopharyngeal, and on a Google search at http://tinyurl.com/2kgdwu.

By the way, most French-Canadians with ancestry in the greater Quebec City area can find Zacharie Cloutier and Saincte Dupont in multiple places in their pedigree charts. That is, most of these people have multiple lines of descent from this one couple.

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